Canonical Allele Identifier: CA2729124002

Gene: COL4A1

Linked Data

• dbSNP Id: rs2139154928

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169941_110169942insGGAGGAAGGGAGGGAGGT , CM000675.2:g.110169941_110169942insGGAGGAAGGGAGGGAGGT	GRCh38
NC_000013.10:g.110822288_110822289insGGAGGAAGGGAGGGAGGT , CM000675.1:g.110822288_110822289insGGAGGAAGGGAGGGAGGT	GRCh37
NC_000013.9:g.109620289_109620290insGGAGGAAGGGAGGGAGGT	NCBI36
NG_011544.2:g.142208_142209insACCTCCCTCCCTTCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-180_3743-179insACCTCCCTCCCTTCCTCC MANE Select	ENSP00000364979.4:n.3743-180_3743-179insACCTCCCTCCCTTCCTCC
ENST00000375820.8:c.3743-180_3743-179insACCTCCCTCCCTTCCTCC	ENSP00000364979.4:n.3743-180_3743-179insACCTCCCTCCCTTCCTCC
NM_001845.5:c.3743-180_3743-179insACCTCCCTCCCTTCCTCC	NP_001836.3:n.3743-180_3743-179insACCTCCCTCCCTTCCTCC
XM_011521048.1:c.3551-180_3551-179insACCTCCCTCCCTTCCTCC	XP_011519350.1:n.3551-180_3551-179insACCTCCCTCCCTTCCTCC
XM_011521048.2:c.3551-180_3551-179insACCTCCCTCCCTTCCTCC	XP_011519350.1:n.3551-180_3551-179insACCTCCCTCCCTTCCTCC
NM_001845.6:c.3743-180_3743-179insACCTCCCTCCCTTCCTCC MANE Select	NP_001836.3:n.3743-180_3743-179insACCTCCCTCCCTTCCTCC