Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621447_23621448delinsCA , CM000678.2:g.23621447_23621448delinsCA	GRCh38
NC_000016.9:g.23632768_23632769delinsCA , CM000678.1:g.23632768_23632769delinsCA	GRCh37
NC_000016.8:g.23540269_23540270delinsCA	NCBI36
NG_007406.1:g.24910_24911delinsTG , LRG_308:g.24910_24911delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3033_3034delinsTG	ENSP00000460666.3:p.Pro1011=
ENST00000565038.2:c.508_509delinsTG	ENSP00000459882.2:n.508_509delinsTG
ENST00000566069.6:c.3027_3028delinsTG	ENSP00000459237.2:p.Pro1009=
ENST00000697377.2:c.2871_2872delinsTG	ENSP00000513286.2:p.Pro957=
ENST00000697379.2:c.3033_3034delinsTG	ENSP00000513287.2:p.Pro1011=
ENST00000561514.2:c.2142_2143delinsTG	ENSP00000460666.2:p.Pro714=
ENST00000697374.1:c.2142_2143delinsTG	ENSP00000513284.1:p.Pro714=
ENST00000697375.1:n.4374_4375delinsTG
ENST00000697376.1:c.2142_2143delinsTG	ENSP00000513285.1:p.Pro714=
ENST00000697377.1:c.1980_1981delinsTG	ENSP00000513286.1:p.Pro660=
ENST00000697378.1:n.3547_3548delinsTG
ENST00000697379.1:c.2142_2143delinsTG	ENSP00000513287.1:p.Pro714=
ENST00000697380.1:n.2319_2320delinsTG
ENST00000697381.1:n.1722_1723delinsTG
ENST00000697382.1:c.2142_2143delinsTG	ENSP00000513288.1:p.Pro714=
ENST00000697383.1:c.561_562delinsTG	ENSP00000513289.1:p.Pro187=
ENST00000261584.9:c.3027_3028delinsTG MANE Select	ENSP00000261584.4:p.Pro1009=
ENST00000261584.8:c.3027_3028delinsTG	ENSP00000261584.4:p.Pro1009=
ENST00000568219.5:c.2142_2143delinsTG	ENSP00000454703.2:p.Pro714=
NM_024675.3:c.3027_3028delinsTG , LRG_308t1:c.3027_3028delinsTG	NP_078951.2:p.Pro1009=
XM_011545946.1:c.3033_3034delinsTG	XP_011544248.1:p.Pro1011=
XM_011545947.1:c.3033_3034delinsTG	XP_011544249.1:p.Pro1011=
XM_011545948.1:c.2142_2143delinsTG	XP_011544250.1:p.Pro714=
XR_950851.1:n.3823_3824delinsTG
XM_011545946.2:c.3033_3034delinsTG	XP_011544248.1:p.Pro1011=
XM_011545947.2:c.3033_3034delinsTG	XP_011544249.1:p.Pro1011=
XM_011545948.2:c.2142_2143delinsTG	XP_011544250.1:p.Pro714=
XM_017023671.1:c.3033_3034delinsTG	XP_016879160.1:p.Pro1011=
XM_017023672.2:c.3027_3028delinsTG	XP_016879161.1:p.Pro1009=
XM_017023673.2:c.3027_3028delinsTG	XP_016879162.1:p.Pro1009=
NM_024675.4:c.3027_3028delinsTG MANE Select	NP_078951.2:p.Pro1009=