Canonical Allele Identifier: CA1363080037

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043596455
• gnomAD v4: 3-48566190-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566191dup , CM000665.2:g.48566191dup	GRCh38
NC_000003.11:g.48603624dup , CM000665.1:g.48603624dup	GRCh37
NC_000003.10:g.48578628dup	NCBI36
NG_007065.1:g.34062dup , LRG_286:g.34062dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8407+76dup MANE Select	ENSP00000506558.1:n.8407+76dup
ENST00000328333.12:c.8407+76dup	ENSP00000332371.8:n.8407+76dup
ENST00000487017.5:n.5046+76dup
NM_000094.3:c.8407+76dup , LRG_286t1:c.8407+76dup	NP_000085.1:n.8407+76dup
XM_011533336.1:c.8434+76dup	XP_011531638.1:n.8434+76dup
XM_011533337.1:c.8407+76dup	XP_011531639.1:n.8407+76dup
XM_011533338.1:c.8374+76dup	XP_011531640.1:n.8374+76dup
XR_940369.1:n.8470+76dup
XR_940370.1:n.8470+76dup
XR_940371.1:n.8470+76dup
XM_017005688.1:c.8347+76dup	XP_016861177.1:n.8347+76dup
XR_001740003.1:n.8443+76dup
XR_001740004.1:n.8443+76dup
XR_001740005.1:n.8443+76dup
NM_000094.4:c.8407+76dup MANE Select	NP_000085.1:n.8407+76dup