Canonical Allele Identifier: CA1261033512

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601121_73601124delinsATCC , CM000664.2:g.73601121_73601124delinsATCC	GRCh38
NC_000002.11:g.73828248_73828251delinsATCC , CM000664.1:g.73828248_73828251delinsATCC	GRCh37
NC_000002.10:g.73681756_73681759delinsATCC	NCBI36
NG_011690.1:g.220369_220372delinsATCC , LRG_741:g.220369_220372delinsATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11492-74_11492-71delinsATCC	ENSP00000507671.1:n.11492-74_11492-71delinsATCC
ENST00000682801.1:c.11167-1064_11167-1061delinsATCC	ENSP00000507862.1:n.11167-1064_11167-1061delinsATCC
ENST00000682859.1:c.11492-74_11492-71delinsATCC	ENSP00000508222.1:n.11492-74_11492-71delinsATCC
ENST00000683791.1:c.4578-74_4578-71delinsATCC
ENST00000684460.1:c.8773-74_8773-71delinsATCC
ENST00000684548.1:c.11492-74_11492-71delinsATCC	ENSP00000507421.1:n.11492-74_11492-71delinsATCC
ENST00000684590.1:c.5939-74_5939-71delinsATCC	ENSP00000507376.1:n.5939-74_5939-71delinsATCC
ENST00000684656.1:c.8957-74_8957-71delinsATCC
ENST00000613296.6:c.11873-74_11873-71delinsATCC MANE Select	ENSP00000482968.1:n.11873-74_11873-71delinsATCC
ENST00000651057.1:c.2027-74_2027-71delinsATCC	ENSP00000498504.1:n.2027-74_2027-71delinsATCC
ENST00000651434.1:c.3229-74_3229-71delinsATCC
ENST00000651750.1:c.1260+240_1260+243delinsATCC
ENST00000652487.1:c.3044-74_3044-71delinsATCC
ENST00000464408.3:n.48-74_48-71delinsATCC
ENST00000484298.5:c.11747-74_11747-71delinsATCC	ENSP00000478155.1:n.11747-74_11747-71delinsATCC
ENST00000613296.4:c.11873-74_11873-71delinsATCC	ENSP00000482968.1:n.11873-74_11873-71delinsATCC
ENST00000620466.4:n.5676-74_5676-71delinsATCC
NM_015120.4:c.11876-74_11876-71delinsATCC , LRG_741t1:c.11876-74_11876-71delinsATCC	NP_055935.4:n.11876-74_11876-71delinsATCC
NM_001378454.1:c.11873-74_11873-71delinsATCC MANE Select	NP_001365383.1:n.11873-74_11873-71delinsATCC