Canonical Allele Identifier: CA695034910

Gene: COL4A1

Linked Data

• dbSNP Id: rs1342055468
• gnomAD v3: 13-110173818-TATTCACTGAA-T
• gnomAD v4: 13-110173818-TATTCACTGAA-T
• MyVariant Identifiers: chr13:g.110826166_110826175del (hg19) ; chr13:g.110173819_110173828del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110173819_110173828del , CM000675.2:g.110173819_110173828del	GRCh38
NC_000013.10:g.110826166_110826175del , CM000675.1:g.110826166_110826175del	GRCh37
NC_000013.9:g.109624167_109624176del	NCBI36
NG_011544.2:g.138322_138331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.3505+72_3505+81del MANE Select	ENSP00000364979.4:n.3505+72_3505+81del
ENST00000375820.8:c.3505+72_3505+81del	ENSP00000364979.4:n.3505+72_3505+81del
NM_001845.5:c.3505+72_3505+81del	NP_001836.3:n.3505+72_3505+81del
XM_011521048.1:c.3313+72_3313+81del	XP_011519350.1:n.3313+72_3313+81del
XM_011521048.2:c.3313+72_3313+81del	XP_011519350.1:n.3313+72_3313+81del
NM_001845.6:c.3505+72_3505+81del MANE Select	NP_001836.3:n.3505+72_3505+81del