Canonical Allele Identifier: CA2765834541

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963775_33963776insACCAAACACACCCAACACA , CM000667.2:g.33963775_33963776insACCAAACACACCCAACACA	GRCh38
NC_000005.9:g.33963880_33963881insACCAAACACACCCAACACA , CM000667.1:g.33963880_33963881insACCAAACACACCCAACACA	GRCh37
NC_000005.8:g.33999637_33999638insACCAAACACACCCAACACA	NCBI36
NG_011691.2:g.25902_25903insTGTTGGGTGTGTTTGGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.805_806insTGTTGGGTGTGTTTGGTTG MANE Select	ENSP00000296589.4:p.Gly269ValfsTer13
ENST00000296589.8:c.805_806insTGTTGGGTGTGTTTGGTTG	ENSP00000296589.4:p.Gly269ValfsTer13
ENST00000382102.7:c.805_806insTGTTGGGTGTGTTTGGTTG	ENSP00000371534.3:p.Gly269ValfsTer13
ENST00000505056.1:n.607_608insTGTTGGGTGTGTTTGGTTG
ENST00000509381.1:c.563-9270_563-9269insTGTTGGGTGTGTTTGGTTG	ENSP00000421100.1:n.563-9270_563-9269insTGTTGGGTGTGTTTGGTTG
ENST00000510600.1:c.280_281insTGTTGGGTGTGTTTGGTTG	ENSP00000424010.1:p.Gly94ValfsTer13
NM_001012509.3:c.805_806insTGTTGGGTGTGTTTGGTTG	NP_001012527.1:p.Gly269ValfsTer13
NM_001297417.2:c.563-9270_563-9269insTGTTGGGTGTGTTTGGTTG	NP_001284346.2:n.563-9270_563-9269insTGTTGGGTGTGTTTGGTTG
NM_016180.4:c.805_806insTGTTGGGTGTGTTTGGTTG	NP_057264.3:p.Gly269ValfsTer13
XM_011514051.1:c.403_404insTGTTGGGTGTGTTTGGTTG	XP_011512353.1:p.Gly135ValfsTer13
XM_011514052.1:c.805_806insTGTTGGGTGTGTTTGGTTG	XP_011512354.1:p.Gly269ValfsTer13
XR_925620.1:n.1622_1623insTGTTGGGTGTGTTTGGTTG
NM_016180.5:c.805_806insTGTTGGGTGTGTTTGGTTG MANE Select	NP_057264.4:p.Gly269ValfsTer13
NM_001012509.4:c.805_806insTGTTGGGTGTGTTTGGTTG	NP_001012527.2:p.Gly269ValfsTer13
NM_001297417.3:c.563-9270_563-9269insTGTTGGGTGTGTTTGGTTG	NP_001284346.2:n.563-9270_563-9269insTGTTGGGTGTGTTTGGTTG
NM_001297417.4:c.563-9270_563-9269insTGTTGGGTGTGTTTGGTTG	NP_001284346.2:n.563-9270_563-9269insTGTTGGGTGTGTTTGGTTG