Canonical Allele Identifier: CA1363075819

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567637_48567638delinsCT , CM000665.2:g.48567637_48567638delinsCT	GRCh38
NC_000003.11:g.48605070_48605071delinsCT , CM000665.1:g.48605070_48605071delinsCT	GRCh37
NC_000003.10:g.48580074_48580075delinsCT	NCBI36
NG_007065.1:g.32615_32616delinsAG , LRG_286:g.32615_32616delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7984-2_7984-1delinsAG MANE Select	ENSP00000506558.1:n.7984-2_7984-1delinsAG...
ENST00000328333.12:c.7984-2_7984-1delinsAG	ENSP00000332371.8:n.7984-2_7984-1delinsAG...
ENST00000487017.5:n.4623-2_4623-1delinsAG
NM_000094.3:c.7984-2_7984-1delinsAG , LRG_286t1:c.7984-2_7984-1delinsAG	NP_000085.1:n.7984-2_7984-1delinsAG
XM_011533336.1:c.8011-2_8011-1delinsAG	XP_011531638.1:n.8011-2_8011-1delinsAG
XM_011533337.1:c.7984-2_7984-1delinsAG	XP_011531639.1:n.7984-2_7984-1delinsAG
XM_011533338.1:c.7951-2_7951-1delinsAG	XP_011531640.1:n.7951-2_7951-1delinsAG
XR_940369.1:n.8047-2_8047-1delinsAG
XR_940370.1:n.8047-2_8047-1delinsAG
XR_940371.1:n.8047-2_8047-1delinsAG
XM_017005688.1:c.7924-2_7924-1delinsAG	XP_016861177.1:n.7924-2_7924-1delinsAG
XR_001740003.1:n.8020-2_8020-1delinsAG
XR_001740004.1:n.8020-2_8020-1delinsAG
XR_001740005.1:n.8020-2_8020-1delinsAG
NM_000094.4:c.7984-2_7984-1delinsAG MANE Select	NP_000085.1:n.7984-2_7984-1delinsAG