Canonical Allele Identifier: CA542789373

Gene: COL7A1

Linked Data

• dbSNP Id: rs1307984016
• gnomAD v2: 3-48607540-ACT-A
• gnomAD v4: 3-48570107-ACT-A
• MyVariant Identifiers: chr3:g.48607541_48607542del (hg19) ; chr3:g.48570108_48570109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570108_48570109del , CM000665.2:g.48570108_48570109del	GRCh38
NC_000003.11:g.48607541_48607542del , CM000665.1:g.48607541_48607542del	GRCh37
NC_000003.10:g.48582545_48582546del	NCBI36
NG_007065.1:g.30144_30145del , LRG_286:g.30144_30145del

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7485+25_7485+26del MANE Select	ENSP00000506558.1:n.7485+25_7485+26del
ENST00000328333.12:c.7485+25_7485+26del	ENSP00000332371.8:n.7485+25_7485+26del
ENST00000422991.1:c.480+25_480+26del	ENSP00000391608.1:n.480+25_480+26del
ENST00000459756.5:n.308+25_308+26del
ENST00000467985.1:n.331+25_331+26del
ENST00000487017.5:n.4124+25_4124+26del
NM_000094.3:c.7485+25_7485+26del , LRG_286t1:c.7485+25_7485+26del	NP_000085.1:n.7485+25_7485+26del
XM_011533336.1:c.7512+25_7512+26del	XP_011531638.1:n.7512+25_7512+26del
XM_011533337.1:c.7485+25_7485+26del	XP_011531639.1:n.7485+25_7485+26del
XM_011533338.1:c.7452+25_7452+26del	XP_011531640.1:n.7452+25_7452+26del
XM_011533339.1:c.7512+25_7512+26del	XP_011531641.1:n.7512+25_7512+26del
XM_011533342.1:c.*40+25_*40+26del	XP_011531644.1:n.*40+25_*40+26del
XR_940369.1:n.7548+25_7548+26del
XR_940370.1:n.7548+25_7548+26del
XR_940371.1:n.7548+25_7548+26del
XR_940372.1:n.7522+25_7522+26del
XM_017005688.1:c.7425+25_7425+26del	XP_016861177.1:n.7425+25_7425+26del
XM_017005689.1:c.7485+25_7485+26del	XP_016861178.1:n.7485+25_7485+26del
XM_017005692.1:c.*40+25_*40+26del	XP_016861181.1:n.*40+25_*40+26del
XR_001740003.1:n.7521+25_7521+26del
XR_001740004.1:n.7521+25_7521+26del
XR_001740005.1:n.7521+25_7521+26del
XR_001740006.1:n.7495+25_7495+26del
NM_000094.4:c.7485+25_7485+26del MANE Select	NP_000085.1:n.7485+25_7485+26del