Canonical Allele Identifier: CA2800581023

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGAAGGGAGGGCGG , CM000675.2:g.110169940_110169941insAAGGGAGGAAGGGAGGGCGG	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGAAGGGAGGGCGG , CM000675.1:g.110822287_110822288insAAGGGAGGAAGGGAGGGCGG	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGAAGGGAGGGCGG	NCBI36
NG_011544.2:g.142211_142212insGCCCTCCCTTCCTCCCTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-177_3743-176insGCCCTCCCTTCCTCCCTTCC MANE Select	ENSP00000364979.4:n.3743-177_3743-176insGCCCTCCCTTCCTCCCTTCC
ENST00000375820.8:c.3743-177_3743-176insGCCCTCCCTTCCTCCCTTCC	ENSP00000364979.4:n.3743-177_3743-176insGCCCTCCCTTCCTCCCTTCC
NM_001845.5:c.3743-177_3743-176insGCCCTCCCTTCCTCCCTTCC	NP_001836.3:n.3743-177_3743-176insGCCCTCCCTTCCTCCCTTCC
XM_011521048.1:c.3551-177_3551-176insGCCCTCCCTTCCTCCCTTCC	XP_011519350.1:n.3551-177_3551-176insGCCCTCCCTTCCTCCCTTCC
XM_011521048.2:c.3551-177_3551-176insGCCCTCCCTTCCTCCCTTCC	XP_011519350.1:n.3551-177_3551-176insGCCCTCCCTTCCTCCCTTCC
NM_001845.6:c.3743-177_3743-176insGCCCTCCCTTCCTCCCTTCC MANE Select	NP_001836.3:n.3743-177_3743-176insGCCCTCCCTTCCTCCCTTCC