Canonical Allele Identifier: CA2659619851

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490199-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490199_73490200insA , CM000664.2:g.73490199_73490200insA	GRCh38
NC_000002.11:g.73717326_73717327insA , CM000664.1:g.73717326_73717327insA	GRCh37
NC_000002.10:g.73570834_73570835insA	NCBI36
NG_011690.1:g.109447_109448insA , LRG_741:g.109447_109448insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7859_7860insA	ENSP00000507671.1:p.Val2622GlyfsTer3
ENST00000682801.1:c.7859_7860insA	ENSP00000507862.1:p.Val2622GlyfsTer3
ENST00000682859.1:c.7859_7860insA	ENSP00000508222.1:p.Val2622GlyfsTer3
ENST00000683791.1:c.1251_1252insA
ENST00000684460.1:c.5311_5312insA
ENST00000684548.1:c.7859_7860insA	ENSP00000507421.1:p.Val2622GlyfsTer3
ENST00000684590.1:c.2306_2307insA	ENSP00000507376.1:p.Val771GlyfsTer3
ENST00000684656.1:c.5311_5312insA
ENST00000613296.6:c.8240_8241insA MANE Select	ENSP00000482968.1:p.Val2749GlyfsTer3
ENST00000651434.1:c.896-29576_896-29575insA
ENST00000423048.5:c.3030+41_3030+42insA	ENSP00000399833.1:n.3030+41_3030+42insA
ENST00000484298.5:c.8114_8115insA	ENSP00000478155.1:p.Val2707GlyfsTer3
ENST00000613296.4:c.8240_8241insA	ENSP00000482968.1:p.Val2749GlyfsTer3
ENST00000614410.4:c.8240_8241insA	ENSP00000479094.1:p.Val2749GlyfsTer3
ENST00000620466.4:n.2043_2044insA
NM_015120.4:c.8243_8244insA , LRG_741t1:c.8243_8244insA	NP_055935.4:p.Val2750GlyfsTer3
NM_001378454.1:c.8240_8241insA MANE Select	NP_001365383.1:p.Val2749GlyfsTer3