Canonical Allele Identifier: CA2586972188

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567807_48567821delinsT , CM000665.2:g.48567807_48567821delinsT	GRCh38
NC_000003.11:g.48605240_48605254delinsT , CM000665.1:g.48605240_48605254delinsT	GRCh37
NC_000003.10:g.48580244_48580258delinsT	NCBI36
NG_007065.1:g.32432_32446delinsA , LRG_286:g.32432_32446delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7929+17_7929+31delinsA MANE Select	ENSP00000506558.1:n.7929+17_7929+31delinsA
ENST00000328333.12:c.7929+17_7929+31delinsA	ENSP00000332371.8:n.7929+17_7929+31delinsA
ENST00000459756.5:n.752+17_752+31delinsA
ENST00000487017.5:n.4568+17_4568+31delinsA
NM_000094.3:c.7929+17_7929+31delinsA , LRG_286t1:c.7929+17_7929+31delinsA	NP_000085.1:n.7929+17_7929+31delinsA
XM_011533336.1:c.7956+17_7956+31delinsA	XP_011531638.1:n.7956+17_7956+31delinsA
XM_011533337.1:c.7929+17_7929+31delinsA	XP_011531639.1:n.7929+17_7929+31delinsA
XM_011533338.1:c.7896+17_7896+31delinsA	XP_011531640.1:n.7896+17_7896+31delinsA
XR_940369.1:n.7992+17_7992+31delinsA
XR_940370.1:n.7992+17_7992+31delinsA
XR_940371.1:n.7992+17_7992+31delinsA
XM_017005688.1:c.7869+17_7869+31delinsA	XP_016861177.1:n.7869+17_7869+31delinsA
XR_001740003.1:n.7965+17_7965+31delinsA
XR_001740004.1:n.7965+17_7965+31delinsA
XR_001740005.1:n.7965+17_7965+31delinsA
NM_000094.4:c.7929+17_7929+31delinsA MANE Select	NP_000085.1:n.7929+17_7929+31delinsA