Canonical Allele Identifier: CA2756157777

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570570_48570571insACCCCAAAACCAAACA , CM000665.2:g.48570570_48570571insACCCCAAAACCAAACA	GRCh38
NC_000003.11:g.48608003_48608004insACCCCAAAACCAAACA , CM000665.1:g.48608003_48608004insACCCCAAAACCAAACA	GRCh37
NC_000003.10:g.48583007_48583008insACCCCAAAACCAAACA	NCBI36
NG_007065.1:g.29682_29683insTGTTTGGTTTTGGGGT , LRG_286:g.29682_29683insTGTTTGGTTTTGGGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7344+68_7345-70insTGTTTGGTTTTGGGGT MANE Select	ENSP00000506558.1:n.7344+68_7345-70insTGT...
ENST00000328333.12:c.7344+68_7345-70insTGTTTGGTTTTGGGGT	ENSP00000332371.8:n.7344+68_7345-70insTGT...
ENST00000422991.1:c.339+68_340-70insTGTTTGGTTTTGGGGT	ENSP00000391608.1:n.339+68_340-70insTGTTT...
ENST00000467985.1:n.94+68_95-70insTGTTTGGTTTTGGGGT
ENST00000487017.5:n.3983+68_3984-70insTGTTTGGTTTTGGGGT
NM_000094.3:c.7344+68_7345-70insTGTTTGGTTTTGGGGT , LRG_286t1:c.7344+68_7345-70insTGTTTGGTTTTGGGGT	NP_000085.1:n.7344+68_7345-70insTGTTTGGTT...
XM_011533336.1:c.7371+68_7372-70insTGTTTGGTTTTGGGGT	XP_011531638.1:n.7371+68_7372-70insTGTTTG...
XM_011533337.1:c.7344+68_7345-70insTGTTTGGTTTTGGGGT	XP_011531639.1:n.7344+68_7345-70insTGTTTG...
XM_011533338.1:c.7371+68_7372-70insTGTTTGGTTTTGGGGT	XP_011531640.1:n.7371+68_7372-70insTGTTTG...
XM_011533339.1:c.7371+68_7372-70insTGTTTGGTTTTGGGGT	XP_011531641.1:n.7371+68_7372-70insTGTTTG...
XM_011533340.1:c.7371+68_7372-70insTGTTTGGTTTTGGGGT	XP_011531642.1:n.7371+68_7372-70insTGTTTG...
XM_011533341.1:c.7345+68_7346-70insTGTTTGGTTTTGGGGT	XP_011531643.1:n.7345+68_7346-70insTGTTTG...
XM_011533342.1:c.7345+68_7346-70insTGTTTGGTTTTGGGGT	XP_011531644.1:n.7345+68_7346-70insTGTTTG...
XR_940369.1:n.7407+68_7408-70insTGTTTGGTTTTGGGGT
XR_940370.1:n.7407+68_7408-70insTGTTTGGTTTTGGGGT
XR_940371.1:n.7407+68_7408-70insTGTTTGGTTTTGGGGT
XR_940372.1:n.7381+68_7382-70insTGTTTGGTTTTGGGGT
XM_017005688.1:c.7344+68_7345-70insTGTTTGGTTTTGGGGT	XP_016861177.1:n.7344+68_7345-70insTGTTTG...
XM_017005689.1:c.7344+68_7345-70insTGTTTGGTTTTGGGGT	XP_016861178.1:n.7344+68_7345-70insTGTTTG...
XM_017005690.1:c.7344+68_7345-70insTGTTTGGTTTTGGGGT	XP_016861179.1:n.7344+68_7345-70insTGTTTG...
XM_017005691.1:c.7318+68_7319-70insTGTTTGGTTTTGGGGT	XP_016861180.1:n.7318+68_7319-70insTGTTTG...
XM_017005692.1:c.7318+68_7319-70insTGTTTGGTTTTGGGGT	XP_016861181.1:n.7318+68_7319-70insTGTTTG...
XR_001740003.1:n.7380+68_7381-70insTGTTTGGTTTTGGGGT
XR_001740004.1:n.7380+68_7381-70insTGTTTGGTTTTGGGGT
XR_001740005.1:n.7380+68_7381-70insTGTTTGGTTTTGGGGT
XR_001740006.1:n.7354+68_7355-70insTGTTTGGTTTTGGGGT
NM_000094.4:c.7344+68_7345-70insTGTTTGGTTTTGGGGT MANE Select	NP_000085.1:n.7344+68_7345-70insTGTTTGGTT...