Canonical Allele Identifier: CA1261020671

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674942625

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572195_73572201del , CM000664.2:g.73572195_73572201del	GRCh38
NC_000002.11:g.73799322_73799328del , CM000664.1:g.73799322_73799328del	GRCh37
NC_000002.10:g.73652830_73652836del	NCBI36
NG_011690.1:g.191443_191449del , LRG_741:g.191443_191449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-67_10004-61del	ENSP00000507671.1:n.10004-67_10004-61del
ENST00000682801.1:c.10004-67_10004-61del	ENSP00000507862.1:n.10004-67_10004-61del
ENST00000682859.1:c.10004-67_10004-61del	ENSP00000508222.1:n.10004-67_10004-61del
ENST00000683791.1:c.3090-67_3090-61del
ENST00000684460.1:c.7285-67_7285-61del
ENST00000684548.1:c.10004-67_10004-61del	ENSP00000507421.1:n.10004-67_10004-61del
ENST00000684590.1:c.4451-67_4451-61del	ENSP00000507376.1:n.4451-67_4451-61del
ENST00000684656.1:c.7330-67_7330-61del
ENST00000613296.6:c.10385-67_10385-61del MANE Select	ENSP00000482968.1:n.10385-67_10385-61del
ENST00000651057.1:c.539-67_539-61del	ENSP00000498504.1:n.539-67_539-61del
ENST00000651434.1:c.1741-67_1741-61del
ENST00000652487.1:c.1482-67_1482-61del
ENST00000423048.5:c.3876-67_3876-61del	ENSP00000399833.1:n.3876-67_3876-61del
ENST00000484298.5:c.10259-67_10259-61del	ENSP00000478155.1:n.10259-67_10259-61del
ENST00000613296.4:c.10385-67_10385-61del	ENSP00000482968.1:n.10385-67_10385-61del
ENST00000614410.4:c.10385-67_10385-61del	ENSP00000479094.1:n.10385-67_10385-61del
ENST00000620466.4:n.4188-67_4188-61del
NM_015120.4:c.10388-67_10388-61del , LRG_741t1:c.10388-67_10388-61del	NP_055935.4:n.10388-67_10388-61del
NM_001378454.1:c.10385-67_10385-61del MANE Select	NP_001365383.1:n.10385-67_10385-61del