Canonical Allele Identifier: CA1363082646

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575137_48575139delinsCAA , CM000665.2:g.48575137_48575139delinsCAA	GRCh38
NC_000003.11:g.48612570_48612572delinsCAA , CM000665.1:g.48612570_48612572delinsCAA	GRCh37
NC_000003.10:g.48587574_48587576delinsCAA	NCBI36
NG_007065.1:g.25114_25116delinsTTG , LRG_286:g.25114_25116delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6217-13_6217-11delinsTTG MANE Select	ENSP00000506558.1:n.6217-13_6217-11delinsTTG
ENST00000328333.12:c.6217-13_6217-11delinsTTG	ENSP00000332371.8:n.6217-13_6217-11delinsTTG
ENST00000487017.5:n.2134-13_2134-11delinsTTG
NM_000094.3:c.6217-13_6217-11delinsTTG , LRG_286t1:c.6217-13_6217-11delinsTTG	NP_000085.1:n.6217-13_6217-11delinsTTG
XM_011533336.1:c.6244-13_6244-11delinsTTG	XP_011531638.1:n.6244-13_6244-11delinsTTG
XM_011533337.1:c.6217-13_6217-11delinsTTG	XP_011531639.1:n.6217-13_6217-11delinsTTG
XM_011533338.1:c.6244-13_6244-11delinsTTG	XP_011531640.1:n.6244-13_6244-11delinsTTG
XM_011533339.1:c.6244-13_6244-11delinsTTG	XP_011531641.1:n.6244-13_6244-11delinsTTG
XM_011533340.1:c.6244-13_6244-11delinsTTG	XP_011531642.1:n.6244-13_6244-11delinsTTG
XM_011533341.1:c.6244-13_6244-11delinsTTG	XP_011531643.1:n.6244-13_6244-11delinsTTG
XM_011533342.1:c.6244-13_6244-11delinsTTG	XP_011531644.1:n.6244-13_6244-11delinsTTG
XR_940369.1:n.6280-13_6280-11delinsTTG
XR_940370.1:n.6280-13_6280-11delinsTTG
XR_940371.1:n.6280-13_6280-11delinsTTG
XR_940372.1:n.6280-13_6280-11delinsTTG
XR_940373.1:n.6280-13_6280-11delinsTTG
XR_940374.1:n.6280-13_6280-11delinsTTG
XR_940375.1:n.6218-13_6218-11delinsTTG
XM_017005688.1:c.6217-13_6217-11delinsTTG	XP_016861177.1:n.6217-13_6217-11delinsTTG
XM_017005689.1:c.6217-13_6217-11delinsTTG	XP_016861178.1:n.6217-13_6217-11delinsTTG
XM_017005690.1:c.6217-13_6217-11delinsTTG	XP_016861179.1:n.6217-13_6217-11delinsTTG
XM_017005691.1:c.6217-13_6217-11delinsTTG	XP_016861180.1:n.6217-13_6217-11delinsTTG
XM_017005692.1:c.6217-13_6217-11delinsTTG	XP_016861181.1:n.6217-13_6217-11delinsTTG
XR_001740003.1:n.6253-13_6253-11delinsTTG
XR_001740004.1:n.6253-13_6253-11delinsTTG
XR_001740005.1:n.6253-13_6253-11delinsTTG
XR_001740006.1:n.6253-13_6253-11delinsTTG
XR_001740007.1:n.6253-13_6253-11delinsTTG
XR_001740008.1:n.6253-13_6253-11delinsTTG
XR_001740009.1:n.6191-13_6191-11delinsTTG
NM_000094.4:c.6217-13_6217-11delinsTTG MANE Select	NP_000085.1:n.6217-13_6217-11delinsTTG