Canonical Allele Identifier: CA73991320

Gene: COL7A1

Linked Data

• dbSNP Id: rs936477105
• gnomAD v3: 3-48591403-C-CAA
• gnomAD v4: 3-48591403-C-CAA
• MyVariant Identifiers: chr3:g.48628836_48628837insAA (hg19) ; chr3:g.48591403_48591404insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48591404_48591405insAA , CM000665.2:g.48591404_48591405insAA	GRCh38
NC_000003.11:g.48628837_48628838insAA , CM000665.1:g.48628837_48628838insAA	GRCh37
NC_000003.10:g.48603841_48603842insAA	NCBI36
NG_007065.1:g.8849_8850insTT , LRG_286:g.8849_8850insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.1636+60_1636+61insTT MANE Select	ENSP00000506558.1:n.1636+60_1636+61insTT
ENST00000328333.12:c.1636+60_1636+61insTT	ENSP00000332371.8:n.1636+60_1636+61insTT
NM_000094.3:c.1636+60_1636+61insTT , LRG_286t1:c.1636+60_1636+61insTT	NP_000085.1:n.1636+60_1636+61insTT
XM_011533336.1:c.1636+60_1636+61insTT	XP_011531638.1:n.1636+60_1636+61insTT
XM_011533337.1:c.1636+60_1636+61insTT	XP_011531639.1:n.1636+60_1636+61insTT
XM_011533338.1:c.1636+60_1636+61insTT	XP_011531640.1:n.1636+60_1636+61insTT
XM_011533339.1:c.1636+60_1636+61insTT	XP_011531641.1:n.1636+60_1636+61insTT
XM_011533340.1:c.1636+60_1636+61insTT	XP_011531642.1:n.1636+60_1636+61insTT
XM_011533341.1:c.1636+60_1636+61insTT	XP_011531643.1:n.1636+60_1636+61insTT
XM_011533342.1:c.1636+60_1636+61insTT	XP_011531644.1:n.1636+60_1636+61insTT
XR_940369.1:n.1672+60_1672+61insTT
XR_940370.1:n.1672+60_1672+61insTT
XR_940371.1:n.1672+60_1672+61insTT
XR_940372.1:n.1672+60_1672+61insTT
XR_940373.1:n.1672+60_1672+61insTT
XR_940374.1:n.1672+60_1672+61insTT
XR_940375.1:n.1672+60_1672+61insTT
XM_017005688.1:c.1636+60_1636+61insTT	XP_016861177.1:n.1636+60_1636+61insTT
XM_017005689.1:c.1636+60_1636+61insTT	XP_016861178.1:n.1636+60_1636+61insTT
XM_017005690.1:c.1636+60_1636+61insTT	XP_016861179.1:n.1636+60_1636+61insTT
XM_017005691.1:c.1636+60_1636+61insTT	XP_016861180.1:n.1636+60_1636+61insTT
XM_017005692.1:c.1636+60_1636+61insTT	XP_016861181.1:n.1636+60_1636+61insTT
XR_001740003.1:n.1672+60_1672+61insTT
XR_001740004.1:n.1672+60_1672+61insTT
XR_001740005.1:n.1672+60_1672+61insTT
XR_001740006.1:n.1672+60_1672+61insTT
XR_001740007.1:n.1672+60_1672+61insTT
XR_001740008.1:n.1672+60_1672+61insTT
XR_001740009.1:n.1672+60_1672+61insTT
NM_000094.4:c.1636+60_1636+61insTT MANE Select	NP_000085.1:n.1636+60_1636+61insTT