Canonical Allele Identifier: CA2695236484

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482913_149482919del , CM000685.2:g.149482913_149482919del	GRCh38
NC_000023.10:g.148564444_148564450del , CM000685.1:g.148564444_148564450del	GRCh37
NC_000023.9:g.148372349_148372355del	NCBI36
NG_011900.3:g.27418_27424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1482_1488del MANE Select	ENSP00000339801.6:p.Asp496GlyfsTer14
ENST00000651111.1:c.849_855del	ENSP00000498395.1:p.Asp285GlyfsTer14
ENST00000340855.10:c.1482_1488del	ENSP00000339801.6:p.Asp496GlyfsTer14
ENST00000422081.6:c.849_855del	ENSP00000477056.1:p.Asp285GlyfsTer14
NM_000202.6:c.1482_1488del	NP_000193.1:p.Asp496GlyfsTer14
NM_001166550.2:c.1212_1218del	NP_001160022.1:p.Asp406GlyfsTer14
NM_000202.7:c.1482_1488del	NP_000193.1:p.Asp496GlyfsTer14
NM_001166550.3:c.1212_1218del	NP_001160022.1:p.Asp406GlyfsTer14
NM_000202.8:c.1482_1488del MANE Select	NP_000193.1:p.Asp496GlyfsTer14
NM_001166550.4:c.1212_1218del	NP_001160022.1:p.Asp406GlyfsTer14