Canonical Allele Identifier: CA2695236666

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498304_149498305del , CM000685.2:g.149498304_149498305del	GRCh38
NC_000023.10:g.148579835_148579836del , CM000685.1:g.148579835_148579836del	GRCh37
NC_000023.9:g.148387740_148387741del	NCBI36
NG_011900.3:g.12030_12031del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.510_511del MANE Select	ENSP00000339801.6:p.Cys171SerfsTer27
ENST00000651111.1:c.-124_-123del	ENSP00000498395.1:n.-124_-123del
ENST00000340855.10:c.510_511del	ENSP00000339801.6:p.Cys171SerfsTer27
ENST00000370441.8:c.510_511del	ENSP00000359470.4:p.Cys171SerfsTer27
ENST00000422081.6:c.-124_-123del	ENSP00000477056.1:n.-124_-123del
ENST00000441880.1:n.114-11207_114-11206del
ENST00000464251.5:c.436_437del	ENSP00000428980.1:n.436_437del
ENST00000466323.5:c.510_511del	ENSP00000418264.1:p.Cys171SerfsTer27
ENST00000490775.5:n.295_296del
ENST00000523759.5:n.624_625del
NM_000202.6:c.510_511del	NP_000193.1:p.Cys171SerfsTer27
NM_001166550.2:c.240_241del	NP_001160022.1:p.Cys81SerfsTer27
NM_006123.4:c.510_511del	NP_006114.1:p.Cys171SerfsTer27
NR_104128.1:n.727_728del
NM_000202.7:c.510_511del	NP_000193.1:p.Cys171SerfsTer27
NM_001166550.3:c.240_241del	NP_001160022.1:p.Cys81SerfsTer27
NM_000202.8:c.510_511del MANE Select	NP_000193.1:p.Cys171SerfsTer27
NM_001166550.4:c.240_241del	NP_001160022.1:p.Cys81SerfsTer27
NM_006123.5:c.510_511del	NP_006114.1:p.Cys171SerfsTer27
NR_104128.2:n.679_680del