Canonical Allele Identifier: CA543045572

Gene: COL7A1

Linked Data

• dbSNP Id: rs1336490251
• gnomAD v2: 3-48605206-TCAGG-T
• gnomAD v3: 3-48567773-TCAGG-T
• gnomAD v4: 3-48567773-TCAGG-T
• MyVariant Identifiers: chr3:g.48605207_48605210del (hg19) ; chr3:g.48567774_48567777del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567777_48567780del , CM000665.2:g.48567777_48567780del	GRCh38
NC_000003.11:g.48605210_48605213del , CM000665.1:g.48605210_48605213del	GRCh37
NC_000003.10:g.48580214_48580217del	NCBI36
NG_007065.1:g.32476_32479del , LRG_286:g.32476_32479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7930-14_7930-11del MANE Select	ENSP00000506558.1:n.7930-14_7930-11del
ENST00000328333.12:c.7930-14_7930-11del	ENSP00000332371.8:n.7930-14_7930-11del
ENST00000459756.5:n.753-14_753-11del
ENST00000487017.5:n.4569-14_4569-11del
NM_000094.3:c.7930-14_7930-11del , LRG_286t1:c.7930-14_7930-11del	NP_000085.1:n.7930-14_7930-11del
XM_011533336.1:c.7957-14_7957-11del	XP_011531638.1:n.7957-14_7957-11del
XM_011533337.1:c.7930-14_7930-11del	XP_011531639.1:n.7930-14_7930-11del
XM_011533338.1:c.7897-14_7897-11del	XP_011531640.1:n.7897-14_7897-11del
XR_940369.1:n.7993-14_7993-11del
XR_940370.1:n.7993-14_7993-11del
XR_940371.1:n.7993-14_7993-11del
XM_017005688.1:c.7870-14_7870-11del	XP_016861177.1:n.7870-14_7870-11del
XR_001740003.1:n.7966-14_7966-11del
XR_001740004.1:n.7966-14_7966-11del
XR_001740005.1:n.7966-14_7966-11del
NM_000094.4:c.7930-14_7930-11del MANE Select	NP_000085.1:n.7930-14_7930-11del