Canonical Allele Identifier: CA1363079261

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570105_48570111delinsGCACTGT , CM000665.2:g.48570105_48570111delinsGCACTGT	GRCh38
NC_000003.11:g.48607538_48607544delinsGCACTGT , CM000665.1:g.48607538_48607544delinsGCACTGT	GRCh37
NC_000003.10:g.48582542_48582548delinsGCACTGT	NCBI36
NG_007065.1:g.30142_30148delinsACAGTGC , LRG_286:g.30142_30148delinsACAGTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7485+23_7485+29delinsACAGTGC MANE Select	ENSP00000506558.1:n.7485+23_7485+29delins...
ENST00000328333.12:c.7485+23_7485+29delinsACAGTGC	ENSP00000332371.8:n.7485+23_7485+29delins...
ENST00000422991.1:c.480+23_480+29delinsACAGTGC	ENSP00000391608.1:n.480+23_480+29delinsAC...
ENST00000459756.5:n.308+23_308+29delinsACAGTGC
ENST00000467985.1:n.331+23_331+29delinsACAGTGC
ENST00000487017.5:n.4124+23_4124+29delinsACAGTGC
NM_000094.3:c.7485+23_7485+29delinsACAGTGC , LRG_286t1:c.7485+23_7485+29delinsACAGTGC	NP_000085.1:n.7485+23_7485+29delinsACAGTG...
XM_011533336.1:c.7512+23_7512+29delinsACAGTGC	XP_011531638.1:n.7512+23_7512+29delinsACA...
XM_011533337.1:c.7485+23_7485+29delinsACAGTGC	XP_011531639.1:n.7485+23_7485+29delinsACA...
XM_011533338.1:c.7452+23_7452+29delinsACAGTGC	XP_011531640.1:n.7452+23_7452+29delinsACA...
XM_011533339.1:c.7512+23_7512+29delinsACAGTGC	XP_011531641.1:n.7512+23_7512+29delinsACA...
XM_011533342.1:c.*40+23_*40+29delinsACAGTGC	XP_011531644.1:n.*40+23_*40+29delinsACAGT...
XR_940369.1:n.7548+23_7548+29delinsACAGTGC
XR_940370.1:n.7548+23_7548+29delinsACAGTGC
XR_940371.1:n.7548+23_7548+29delinsACAGTGC
XR_940372.1:n.7522+23_7522+29delinsACAGTGC
XM_017005688.1:c.7425+23_7425+29delinsACAGTGC	XP_016861177.1:n.7425+23_7425+29delinsACA...
XM_017005689.1:c.7485+23_7485+29delinsACAGTGC	XP_016861178.1:n.7485+23_7485+29delinsACA...
XM_017005692.1:c.*40+23_*40+29delinsACAGTGC	XP_016861181.1:n.*40+23_*40+29delinsACAGT...
XR_001740003.1:n.7521+23_7521+29delinsACAGTGC
XR_001740004.1:n.7521+23_7521+29delinsACAGTGC
XR_001740005.1:n.7521+23_7521+29delinsACAGTGC
XR_001740006.1:n.7495+23_7495+29delinsACAGTGC
NM_000094.4:c.7485+23_7485+29delinsACAGTGC MANE Select	NP_000085.1:n.7485+23_7485+29delinsACAGTG...