Canonical Allele Identifier: CA7180483

Gene: ATL1

Linked Data

• dbSNP Id: rs752100593
• ExAC: 14:51095063 TATG / T
• gnomAD v2: 14-51095063-TATG-T
• gnomAD v4: 14-50628345-TATG-T
• MyVariant Identifiers: chr14:g.51095064_51095066del (hg19) ; chr14:g.50628346_50628348del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50628348_50628350del , CM000676.2:g.50628348_50628350del	GRCh38
NC_000014.8:g.51095066_51095068del , CM000676.1:g.51095066_51095068del	GRCh37
NC_000014.7:g.50164816_50164818del	NCBI36
NG_009028.1:g.100267_100269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.1437_1439del	ENSP00000450989.2:p.Met479del
ENST00000556478.3:c.1437_1439del	ENSP00000501428.2:p.Met479del
ENST00000682037.1:c.1437_1439del	ENSP00000508289.1:p.Met479del
ENST00000682219.1:n.2775_2777del
ENST00000683037.1:n.1358_1360del
ENST00000683330.1:n.1771_1773del
ENST00000358385.12:c.1437_1439del MANE Select	ENSP00000351155.7:p.Met479del
ENST00000674288.1:c.*2729_*2731del	ENSP00000501522.1:n.*2729_*2731del
ENST00000358385.10:c.1437_1439del	ENSP00000351155.6:p.Met479del
ENST00000441560.6:c.1437_1439del	ENSP00000413675.2:p.Met479del
ENST00000556067.1:c.183_185del	ENSP00000451100.1:p.Met61del
NM_001127713.1:c.1437_1439del	NP_001121185.1:p.Met479del
NM_015915.4:c.1437_1439del	NP_056999.2:p.Met479del
NM_181598.3:c.1437_1439del	NP_853629.2:p.Met479del
NM_015915.5:c.1437_1439del MANE Select	NP_056999.2:p.Met479del
NM_181598.4:c.1437_1439del	NP_853629.2:p.Met479del