Canonical Allele Identifier: CA2665618806

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567788-AGCCTTAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567792_48567798del , CM000665.2:g.48567792_48567798del	GRCh38
NC_000003.11:g.48605225_48605231del , CM000665.1:g.48605225_48605231del	GRCh37
NC_000003.10:g.48580229_48580235del	NCBI36
NG_007065.1:g.32458_32464del , LRG_286:g.32458_32464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7930-32_7930-26del MANE Select	ENSP00000506558.1:n.7930-32_7930-26del
ENST00000328333.12:c.7930-32_7930-26del	ENSP00000332371.8:n.7930-32_7930-26del
ENST00000459756.5:n.753-32_753-26del
ENST00000487017.5:n.4569-32_4569-26del
NM_000094.3:c.7930-32_7930-26del , LRG_286t1:c.7930-32_7930-26del	NP_000085.1:n.7930-32_7930-26del
XM_011533336.1:c.7957-32_7957-26del	XP_011531638.1:n.7957-32_7957-26del
XM_011533337.1:c.7930-32_7930-26del	XP_011531639.1:n.7930-32_7930-26del
XM_011533338.1:c.7897-32_7897-26del	XP_011531640.1:n.7897-32_7897-26del
XR_940369.1:n.7993-32_7993-26del
XR_940370.1:n.7993-32_7993-26del
XR_940371.1:n.7993-32_7993-26del
XM_017005688.1:c.7870-32_7870-26del	XP_016861177.1:n.7870-32_7870-26del
XR_001740003.1:n.7966-32_7966-26del
XR_001740004.1:n.7966-32_7966-26del
XR_001740005.1:n.7966-32_7966-26del
NM_000094.4:c.7930-32_7930-26del MANE Select	NP_000085.1:n.7930-32_7930-26del