Canonical Allele Identifier: CA1261033495

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601094_73601095delinsAC , CM000664.2:g.73601094_73601095delinsAC	GRCh38
NC_000002.11:g.73828221_73828222delinsAC , CM000664.1:g.73828221_73828222delinsAC	GRCh37
NC_000002.10:g.73681729_73681730delinsAC	NCBI36
NG_011690.1:g.220342_220343delinsAC , LRG_741:g.220342_220343delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-101_11492-100delinsAC	ENSP00000507671.1:n.11492-101_11492-100delinsAC
ENST00000682801.1:c.11167-1091_11167-1090delinsAC	ENSP00000507862.1:n.11167-1091_11167-1090delinsAC
ENST00000682859.1:c.11492-101_11492-100delinsAC	ENSP00000508222.1:n.11492-101_11492-100delinsAC
ENST00000683791.1:c.4578-101_4578-100delinsAC
ENST00000684460.1:c.8773-101_8773-100delinsAC
ENST00000684548.1:c.11492-101_11492-100delinsAC	ENSP00000507421.1:n.11492-101_11492-100delinsAC
ENST00000684590.1:c.5939-101_5939-100delinsAC	ENSP00000507376.1:n.5939-101_5939-100delinsAC
ENST00000684656.1:c.8957-101_8957-100delinsAC
ENST00000613296.6:c.11873-101_11873-100delinsAC MANE Select	ENSP00000482968.1:n.11873-101_11873-100delinsAC
ENST00000651057.1:c.2027-101_2027-100delinsAC	ENSP00000498504.1:n.2027-101_2027-100delinsAC
ENST00000651434.1:c.3229-101_3229-100delinsAC
ENST00000651750.1:c.1260+213_1260+214delinsAC
ENST00000652487.1:c.3044-101_3044-100delinsAC
ENST00000464408.3:n.48-101_48-100delinsAC
ENST00000484298.5:c.11747-101_11747-100delinsAC	ENSP00000478155.1:n.11747-101_11747-100delinsAC
ENST00000613296.4:c.11873-101_11873-100delinsAC	ENSP00000482968.1:n.11873-101_11873-100delinsAC
ENST00000620466.4:n.5676-101_5676-100delinsAC
NM_015120.4:c.11876-101_11876-100delinsAC , LRG_741t1:c.11876-101_11876-100delinsAC	NP_055935.4:n.11876-101_11876-100delinsAC
NM_001378454.1:c.11873-101_11873-100delinsAC MANE Select	NP_001365383.1:n.11873-101_11873-100delinsAC