Canonical Allele Identifier: CA1261020606

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572113_73572115delinsCTT , CM000664.2:g.73572113_73572115delinsCTT	GRCh38
NC_000002.11:g.73799240_73799242delinsCTT , CM000664.1:g.73799240_73799242delinsCTT	GRCh37
NC_000002.10:g.73652748_73652750delinsCTT	NCBI36
NG_011690.1:g.191361_191363delinsCTT , LRG_741:g.191361_191363delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10004-149_10004-147delinsCTT	ENSP00000507671.1:n.10004-149_10004-147delinsCTT
ENST00000682801.1:c.10004-149_10004-147delinsCTT	ENSP00000507862.1:n.10004-149_10004-147delinsCTT
ENST00000682859.1:c.10004-149_10004-147delinsCTT	ENSP00000508222.1:n.10004-149_10004-147delinsCTT
ENST00000683791.1:c.3090-149_3090-147delinsCTT
ENST00000684460.1:c.7285-149_7285-147delinsCTT
ENST00000684548.1:c.10004-149_10004-147delinsCTT	ENSP00000507421.1:n.10004-149_10004-147delinsCTT
ENST00000684590.1:c.4451-149_4451-147delinsCTT	ENSP00000507376.1:n.4451-149_4451-147delinsCTT
ENST00000684656.1:c.7330-149_7330-147delinsCTT
ENST00000613296.6:c.10385-149_10385-147delinsCTT MANE Select	ENSP00000482968.1:n.10385-149_10385-147delinsCTT
ENST00000651057.1:c.539-149_539-147delinsCTT	ENSP00000498504.1:n.539-149_539-147delinsCTT
ENST00000651434.1:c.1741-149_1741-147delinsCTT
ENST00000652487.1:c.1482-149_1482-147delinsCTT
ENST00000423048.5:c.3876-149_3876-147delinsCTT	ENSP00000399833.1:n.3876-149_3876-147delinsCTT
ENST00000484298.5:c.10259-149_10259-147delinsCTT	ENSP00000478155.1:n.10259-149_10259-147delinsCTT
ENST00000613296.4:c.10385-149_10385-147delinsCTT	ENSP00000482968.1:n.10385-149_10385-147delinsCTT
ENST00000614410.4:c.10385-149_10385-147delinsCTT	ENSP00000479094.1:n.10385-149_10385-147delinsCTT
ENST00000620466.4:n.4188-149_4188-147delinsCTT
NM_015120.4:c.10388-149_10388-147delinsCTT , LRG_741t1:c.10388-149_10388-147delinsCTT	NP_055935.4:n.10388-149_10388-147delinsCTT
NM_001378454.1:c.10385-149_10385-147delinsCTT MANE Select	NP_001365383.1:n.10385-149_10385-147delinsCTT