Canonical Allele Identifier: CA960159952

Gene: COL4A1

Linked Data

• gnomAD v3: 13-110169931-G-GGGAGGGAGGAAGGGAGGAA
• gnomAD v4: 13-110169931-G-GGGAGGGAGGAAGGGAGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGAAGGAGGGAGG , CM000675.2:g.110169940_110169941insAAGGGAGGAAGGAGGGAGG	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGAAGGAGGGAGG , CM000675.1:g.110822287_110822288insAAGGGAGGAAGGAGGGAGG	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGAAGGAGGGAGG	NCBI36
NG_011544.2:g.142218_142219insTTCCTCCCTTCCTCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-170_3743-169insTTCCTCCCTTCCTCCCTCC MANE Select	ENSP00000364979.4:n.3743-170_3743-169insTTCCTCCCTTCCTCCCTCC
ENST00000375820.8:c.3743-170_3743-169insTTCCTCCCTTCCTCCCTCC	ENSP00000364979.4:n.3743-170_3743-169insTTCCTCCCTTCCTCCCTCC
NM_001845.5:c.3743-170_3743-169insTTCCTCCCTTCCTCCCTCC	NP_001836.3:n.3743-170_3743-169insTTCCTCCCTTCCTCCCTCC
XM_011521048.1:c.3551-170_3551-169insTTCCTCCCTTCCTCCCTCC	XP_011519350.1:n.3551-170_3551-169insTTCCTCCCTTCCTCCCTCC
XM_011521048.2:c.3551-170_3551-169insTTCCTCCCTTCCTCCCTCC	XP_011519350.1:n.3551-170_3551-169insTTCCTCCCTTCCTCCCTCC
NM_001845.6:c.3743-170_3743-169insTTCCTCCCTTCCTCCCTCC MANE Select	NP_001836.3:n.3743-170_3743-169insTTCCTCCCTTCCTCCCTCC