Canonical Allele Identifier: CA1363075826

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567642_48567644delinsGAA , CM000665.2:g.48567642_48567644delinsGAA	GRCh38
NC_000003.11:g.48605075_48605077delinsGAA , CM000665.1:g.48605075_48605077delinsGAA	GRCh37
NC_000003.10:g.48580079_48580081delinsGAA	NCBI36
NG_007065.1:g.32609_32611delinsTTC , LRG_286:g.32609_32611delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7984-8_7984-6delinsTTC MANE Select	ENSP00000506558.1:n.7984-8_7984-6delinsTTC
ENST00000328333.12:c.7984-8_7984-6delinsTTC	ENSP00000332371.8:n.7984-8_7984-6delinsTTC
ENST00000487017.5:n.4623-8_4623-6delinsTTC
NM_000094.3:c.7984-8_7984-6delinsTTC , LRG_286t1:c.7984-8_7984-6delinsTTC	NP_000085.1:n.7984-8_7984-6delinsTTC
XM_011533336.1:c.8011-8_8011-6delinsTTC	XP_011531638.1:n.8011-8_8011-6delinsTTC
XM_011533337.1:c.7984-8_7984-6delinsTTC	XP_011531639.1:n.7984-8_7984-6delinsTTC
XM_011533338.1:c.7951-8_7951-6delinsTTC	XP_011531640.1:n.7951-8_7951-6delinsTTC
XR_940369.1:n.8047-8_8047-6delinsTTC
XR_940370.1:n.8047-8_8047-6delinsTTC
XR_940371.1:n.8047-8_8047-6delinsTTC
XM_017005688.1:c.7924-8_7924-6delinsTTC	XP_016861177.1:n.7924-8_7924-6delinsTTC
XR_001740003.1:n.8020-8_8020-6delinsTTC
XR_001740004.1:n.8020-8_8020-6delinsTTC
XR_001740005.1:n.8020-8_8020-6delinsTTC
NM_000094.4:c.7984-8_7984-6delinsTTC MANE Select	NP_000085.1:n.7984-8_7984-6delinsTTC