Canonical Allele Identifier: CA612622950

Gene: COL4A1

Linked Data

• dbSNP Id: rs1566346264
• gnomAD v2: 13-110822274-A-AGGAGGGAGGGAGGAAGGGAG
• gnomAD v3: 13-110169927-A-AGGAGGGAGGGAGGAAGGGAG
• gnomAD v4: 13-110169927-A-AGGAGGGAGGGAGGAAGGGAG
• MyVariant Identifiers: chr13:g.110822278_110822279insGGAGGGAGGAAGGGAGGGAG (hg19) ; chr13:g.110169931_110169932insGGAGGGAGGAAGGGAGGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169940_110169941insAAGGGAGGGAGGGAGGGAGG , CM000675.2:g.110169940_110169941insAAGGGAGGGAGGGAGGGAGG	GRCh38
NC_000013.10:g.110822287_110822288insAAGGGAGGGAGGGAGGGAGG , CM000675.1:g.110822287_110822288insAAGGGAGGGAGGGAGGGAGG	GRCh37
NC_000013.9:g.109620288_109620289insAAGGGAGGGAGGGAGGGAGG	NCBI36
NG_011544.2:g.142222_142223insCTCCCTTCCTCCCTCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-166_3743-165insCTCCCTTCCTCCCTCCCTCC MANE Select	ENSP00000364979.4:n.3743-166_3743-165insCTCCCTTCCTCCCTCCCTCC
ENST00000375820.8:c.3743-166_3743-165insCTCCCTTCCTCCCTCCCTCC	ENSP00000364979.4:n.3743-166_3743-165insCTCCCTTCCTCCCTCCCTCC
NM_001845.5:c.3743-166_3743-165insCTCCCTTCCTCCCTCCCTCC	NP_001836.3:n.3743-166_3743-165insCTCCCTTCCTCCCTCCCTCC
XM_011521048.1:c.3551-166_3551-165insCTCCCTTCCTCCCTCCCTCC	XP_011519350.1:n.3551-166_3551-165insCTCCCTTCCTCCCTCCCTCC
XM_011521048.2:c.3551-166_3551-165insCTCCCTTCCTCCCTCCCTCC	XP_011519350.1:n.3551-166_3551-165insCTCCCTTCCTCCCTCCCTCC
NM_001845.6:c.3743-166_3743-165insCTCCCTTCCTCCCTCCCTCC MANE Select	NP_001836.3:n.3743-166_3743-165insCTCCCTTCCTCCCTCCCTCC