Canonical Allele Identifier: CA2118733045

Gene: COL4A1

Linked Data

• dbSNP Id: rs1877535129

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGAAGGGCGGGAGG , CM000675.2:g.110169940_110169941insAAGGGAGGAAGGGCGGGAGG	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGAAGGGCGGGAGG , CM000675.1:g.110822287_110822288insAAGGGAGGAAGGGCGGGAGG	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGAAGGGCGGGAGG	NCBI36
NG_011544.2:g.142215_142216insGCCCTTCCTCCCTTCCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-173_3743-172insGCCCTTCCTCCCTTCCTCCC MANE Select	ENSP00000364979.4:n.3743-173_3743-172insGCCCTTCCTCCCTTCCTCCC
ENST00000375820.8:c.3743-173_3743-172insGCCCTTCCTCCCTTCCTCCC	ENSP00000364979.4:n.3743-173_3743-172insGCCCTTCCTCCCTTCCTCCC
NM_001845.5:c.3743-173_3743-172insGCCCTTCCTCCCTTCCTCCC	NP_001836.3:n.3743-173_3743-172insGCCCTTCCTCCCTTCCTCCC
XM_011521048.1:c.3551-173_3551-172insGCCCTTCCTCCCTTCCTCCC	XP_011519350.1:n.3551-173_3551-172insGCCCTTCCTCCCTTCCTCCC
XM_011521048.2:c.3551-173_3551-172insGCCCTTCCTCCCTTCCTCCC	XP_011519350.1:n.3551-173_3551-172insGCCCTTCCTCCCTTCCTCCC
NM_001845.6:c.3743-173_3743-172insGCCCTTCCTCCCTTCCTCCC MANE Select	NP_001836.3:n.3743-173_3743-172insGCCCTTCCTCCCTTCCTCCC