Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156508951_156508952delinsCA , CM000667.2:g.156508951_156508952delinsCA	GRCh38
NC_000005.9:g.155935961_155935962delinsCA , CM000667.1:g.155935961_155935962delinsCA	GRCh37
NC_000005.8:g.155868539_155868540delinsCA	NCBI36
NG_008693.2:g.643608_643609delinsCA , LRG_205:g.643608_643609delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.294+249_294+250delinsCA MANE Select	ENSP00000338343.4:n.294+249_294+250delinsCA
ENST00000337851.8:c.294+249_294+250delinsCA	ENSP00000338343.4:n.294+249_294+250delinsCA
ENST00000435422.7:c.291+249_291+250delinsCA	ENSP00000403003.2:n.291+249_291+250delinsCA
ENST00000517913.5:c.294+249_294+250delinsCA	ENSP00000429378.1:n.294+249_294+250delinsCA
ENST00000524347.2:c.158+249_158+250delinsCA	ENSP00000430794.1:n.158+249_158+250delinsCA
NM_000337.5:c.294+249_294+250delinsCA , LRG_205t1:c.294+249_294+250delinsCA	NP_000328.2:n.294+249_294+250delinsCA
NM_001128209.1:c.291+249_291+250delinsCA	NP_001121681.1:n.291+249_291+250delinsCA
NM_172244.2:c.294+249_294+250delinsCA	NP_758447.1:n.294+249_294+250delinsCA
XM_005265966.3:c.294+249_294+250delinsCA	XP_005266023.1:n.294+249_294+250delinsCA
XM_005265967.1:c.294+249_294+250delinsCA	XP_005266024.1:n.294+249_294+250delinsCA
XM_006714911.2:c.294+249_294+250delinsCA	XP_006714974.1:n.294+249_294+250delinsCA
XM_011534621.1:c.291+249_291+250delinsCA	XP_011532923.1:n.291+249_291+250delinsCA
XM_005265966.5:c.294+249_294+250delinsCA	XP_005266023.1:n.294+249_294+250delinsCA
XM_005265967.2:c.294+249_294+250delinsCA	XP_005266024.1:n.294+249_294+250delinsCA
XM_011534621.2:c.291+249_291+250delinsCA	XP_011532923.1:n.291+249_291+250delinsCA
XM_017009723.2:c.294+249_294+250delinsCA	XP_016865212.1:n.294+249_294+250delinsCA
XM_017009724.1:c.294+249_294+250delinsCA	XP_016865213.1:n.294+249_294+250delinsCA
NM_001128209.2:c.291+249_291+250delinsCA	NP_001121681.1:n.291+249_291+250delinsCA
NM_172244.3:c.294+249_294+250delinsCA	NP_758447.1:n.294+249_294+250delinsCA
NM_000337.6:c.294+249_294+250delinsCA MANE Select	NP_000328.2:n.294+249_294+250delinsCA