Canonical Allele Identifier: CA1363082652

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575147_48575150delinsGGGT , CM000665.2:g.48575147_48575150delinsGGGT	GRCh38
NC_000003.11:g.48612580_48612583delinsGGGT , CM000665.1:g.48612580_48612583delinsGGGT	GRCh37
NC_000003.10:g.48587584_48587587delinsGGGT	NCBI36
NG_007065.1:g.25103_25106delinsACCC , LRG_286:g.25103_25106delinsACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6217-24_6217-21delinsACCC MANE Select	ENSP00000506558.1:n.6217-24_6217-21delinsACCC
ENST00000328333.12:c.6217-24_6217-21delinsACCC	ENSP00000332371.8:n.6217-24_6217-21delinsACCC
ENST00000487017.5:n.2134-24_2134-21delinsACCC
NM_000094.3:c.6217-24_6217-21delinsACCC , LRG_286t1:c.6217-24_6217-21delinsACCC	NP_000085.1:n.6217-24_6217-21delinsACCC
XM_011533336.1:c.6244-24_6244-21delinsACCC	XP_011531638.1:n.6244-24_6244-21delinsACCC
XM_011533337.1:c.6217-24_6217-21delinsACCC	XP_011531639.1:n.6217-24_6217-21delinsACCC
XM_011533338.1:c.6244-24_6244-21delinsACCC	XP_011531640.1:n.6244-24_6244-21delinsACCC
XM_011533339.1:c.6244-24_6244-21delinsACCC	XP_011531641.1:n.6244-24_6244-21delinsACCC
XM_011533340.1:c.6244-24_6244-21delinsACCC	XP_011531642.1:n.6244-24_6244-21delinsACCC
XM_011533341.1:c.6244-24_6244-21delinsACCC	XP_011531643.1:n.6244-24_6244-21delinsACCC
XM_011533342.1:c.6244-24_6244-21delinsACCC	XP_011531644.1:n.6244-24_6244-21delinsACCC
XR_940369.1:n.6280-24_6280-21delinsACCC
XR_940370.1:n.6280-24_6280-21delinsACCC
XR_940371.1:n.6280-24_6280-21delinsACCC
XR_940372.1:n.6280-24_6280-21delinsACCC
XR_940373.1:n.6280-24_6280-21delinsACCC
XR_940374.1:n.6280-24_6280-21delinsACCC
XR_940375.1:n.6218-24_6218-21delinsACCC
XM_017005688.1:c.6217-24_6217-21delinsACCC	XP_016861177.1:n.6217-24_6217-21delinsACCC
XM_017005689.1:c.6217-24_6217-21delinsACCC	XP_016861178.1:n.6217-24_6217-21delinsACCC
XM_017005690.1:c.6217-24_6217-21delinsACCC	XP_016861179.1:n.6217-24_6217-21delinsACCC
XM_017005691.1:c.6217-24_6217-21delinsACCC	XP_016861180.1:n.6217-24_6217-21delinsACCC
XM_017005692.1:c.6217-24_6217-21delinsACCC	XP_016861181.1:n.6217-24_6217-21delinsACCC
XR_001740003.1:n.6253-24_6253-21delinsACCC
XR_001740004.1:n.6253-24_6253-21delinsACCC
XR_001740005.1:n.6253-24_6253-21delinsACCC
XR_001740006.1:n.6253-24_6253-21delinsACCC
XR_001740007.1:n.6253-24_6253-21delinsACCC
XR_001740008.1:n.6253-24_6253-21delinsACCC
XR_001740009.1:n.6191-24_6191-21delinsACCC
NM_000094.4:c.6217-24_6217-21delinsACCC MANE Select	NP_000085.1:n.6217-24_6217-21delinsACCC