Canonical Allele Identifier: CA2118733105

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169976_110169977delinsCT , CM000675.2:g.110169976_110169977delinsCT	GRCh38
NC_000013.10:g.110822323_110822324delinsCT , CM000675.1:g.110822323_110822324delinsCT	GRCh37
NC_000013.9:g.109620324_109620325delinsCT	NCBI36
NG_011544.2:g.142173_142174delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-215_3743-214delinsAG MANE Select	ENSP00000364979.4:n.3743-215_3743-214delinsAG
ENST00000375820.8:c.3743-215_3743-214delinsAG	ENSP00000364979.4:n.3743-215_3743-214delinsAG
NM_001845.5:c.3743-215_3743-214delinsAG	NP_001836.3:n.3743-215_3743-214delinsAG
XM_011521048.1:c.3551-215_3551-214delinsAG	XP_011519350.1:n.3551-215_3551-214delinsAG
XM_011521048.2:c.3551-215_3551-214delinsAG	XP_011519350.1:n.3551-215_3551-214delinsAG
NM_001845.6:c.3743-215_3743-214delinsAG MANE Select	NP_001836.3:n.3743-215_3743-214delinsAG