Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221483_7221488delinsAAGGTC , CM000679.2:g.7221483_7221488delinsAAGGTC	GRCh38
NC_000017.10:g.7124802_7124807delinsAAGGTC , CM000679.1:g.7124802_7124807delinsAAGGTC	GRCh37
NC_000017.9:g.7065526_7065531delinsAAGGTC	NCBI36
NG_007975.1:g.6650_6655delinsAAGGTC
NG_008391.2:g.3563_3568delinsGACCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-55_478-50delinsAAGGTC MANE Select	ENSP00000349297.5:n.478-55_478-50delinsAAGGTC
ENST00000322910.9:c.433-55_433-50delinsAAGGTC	ENSP00000325395.5:n.433-55_433-50delinsAAGGTC
ENST00000350303.9:c.412-55_412-50delinsAAGGTC	ENSP00000344152.5:n.412-55_412-50delinsAAGGTC
ENST00000356839.9:c.478-55_478-50delinsAAGGTC	ENSP00000349297.5:n.478-55_478-50delinsAAGGTC
ENST00000543245.6:c.547-55_547-50delinsAAGGTC	ENSP00000438689.2:n.547-55_547-50delinsAAGGTC
ENST00000577191.5:n.555-55_555-50delinsAAGGTC
ENST00000577433.5:n.686-55_686-50delinsAAGGTC
ENST00000577857.5:n.294-55_294-50delinsAAGGTC
ENST00000579286.5:n.659-55_659-50delinsAAGGTC
ENST00000579886.2:c.316-55_316-50delinsAAGGTC	ENSP00000463246.1:n.316-55_316-50delinsAAGGTC
ENST00000580365.1:n.209-55_209-50delinsAAGGTC
ENST00000581378.5:c.177-36_177-31delinsAAGGTC
ENST00000581562.5:n.524+425_524+430delinsAAGGTC
ENST00000582166.1:n.459-55_459-50delinsAAGGTC
ENST00000583312.5:c.478-55_478-50delinsAAGGTC	ENSP00000467920.1:n.478-55_478-50delinsAAGGTC
ENST00000583760.1:n.205_210delinsAAGGTC
NM_000018.3:c.478-55_478-50delinsAAGGTC	NP_000009.1:n.478-55_478-50delinsAAGGTC
NM_001033859.2:c.412-55_412-50delinsAAGGTC	NP_001029031.1:n.412-55_412-50delinsAAGGTC
NM_001270447.1:c.547-55_547-50delinsAAGGTC	NP_001257376.1:n.547-55_547-50delinsAAGGTC
NM_001270448.1:c.250-55_250-50delinsAAGGTC	NP_001257377.1:n.250-55_250-50delinsAAGGTC
XM_006721516.2:c.478-55_478-50delinsAAGGTC	XP_006721579.2:n.478-55_478-50delinsAAGGTC
XM_011523829.1:c.478-55_478-50delinsAAGGTC	XP_011522131.1:n.478-55_478-50delinsAAGGTC
XM_011523830.1:c.478-55_478-50delinsAAGGTC	XP_011522132.1:n.478-55_478-50delinsAAGGTC
XR_934021.1:n.585-55_585-50delinsAAGGTC
XR_934022.1:n.585-55_585-50delinsAAGGTC
XR_934023.1:n.585-55_585-50delinsAAGGTC
XM_006721516.3:c.478-55_478-50delinsAAGGTC	XP_006721579.2:n.478-55_478-50delinsAAGGTC
XM_011523829.2:c.478-55_478-50delinsAAGGTC	XP_011522131.1:n.478-55_478-50delinsAAGGTC
XM_011523830.2:c.478-55_478-50delinsAAGGTC	XP_011522132.1:n.478-55_478-50delinsAAGGTC
XM_024450741.1:c.478-55_478-50delinsAAGGTC	XP_024306509.1:n.478-55_478-50delinsAAGGTC
XR_934021.2:n.537-55_537-50delinsAAGGTC
XR_934022.2:n.537-55_537-50delinsAAGGTC
XR_934023.2:n.537-55_537-50delinsAAGGTC
NM_000018.4:c.478-55_478-50delinsAAGGTC MANE Select	NP_000009.1:n.478-55_478-50delinsAAGGTC
NM_001033859.3:c.412-55_412-50delinsAAGGTC	NP_001029031.1:n.412-55_412-50delinsAAGGTC
NM_001270447.2:c.547-55_547-50delinsAAGGTC	NP_001257376.1:n.547-55_547-50delinsAAGGTC
NM_001270448.2:c.250-55_250-50delinsAAGGTC	NP_001257377.1:n.250-55_250-50delinsAAGGTC