Canonical Allele Identifier: CA960159973

Gene: COL4A1

Linked Data

• gnomAD v3: 13-110169938-A-AGGAAGGGAGGAAGGGAGGGG
• gnomAD v4: 13-110169938-A-AGGAAGGGAGGAAGGGAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGAAGGGAGGGGGG , CM000675.2:g.110169940_110169941insAAGGGAGGAAGGGAGGGGGG	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGAAGGGAGGGGGG , CM000675.1:g.110822287_110822288insAAGGGAGGAAGGGAGGGGGG	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGAAGGGAGGGGGG	NCBI36
NG_011544.2:g.142211_142212insCCCCTCCCTTCCTCCCTTCC

Transcript Alleles

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