Canonical Allele Identifier: CA2975984922
Gene: SLC37A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119029370_119029372del , CM000673.2:g.119029370_119029372del GRCh38
NC_000011.9:g.118900080_118900082del , CM000673.1:g.118900080_118900082del GRCh37
NC_000011.8:g.118405290_118405292del NCBI36
NG_013331.1:g.6536_6538del , LRG_187:g.6536_6538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.228_230del
ENST00000697846.1:n.228_230del
ENST00000697847.1:n.228_230del
ENST00000697848.1:n.228_230del
ENST00000697849.1:n.472_474del
ENST00000697850.1:n.228_230del
ENST00000697851.1:n.472_474del
ENST00000638186.1:n.302_304del
ENST00000638360.1:n.236_238del
ENST00000638925.1:n.235_237del
ENST00000650539.1:n.404_406del
ENST00000330775.9:c.-2_1del ENSP00000476242.2:n.-2_1del
ENST00000357590.9:c.-2_1del ENSP00000476176.2:n.-2_1del
ENST00000525039.5:n.422_424del
ENST00000525102.5:n.756_758del
ENST00000525787.1:n.294_296del
ENST00000526626.6:n.194_196del
ENST00000527992.5:n.226_228del
ENST00000529510.5:n.17_19del
ENST00000530407.5:n.197+21_197+23del
ENST00000532085.1:n.1493_1495del
ENST00000532888.6:n.194_196del
ENST00000534384.1:n.219_221del
ENST00000538950.5:c.-172+21_-172+23del ENSP00000475991.2:n.-172+21_-172+23del
ENST00000545985.5:c.-2_1del ENSP00000475241.2:n.-2_1del
NM_001164277.1:c.-2_1del , LRG_187t1:c.-2_1del NP_001157749.1:n.-2_1del
NM_001164278.1:c.-2_1del NP_001157750.1:n.-2_1del
NM_001164279.1:c.-172+21_-172+23del NP_001157751.1:n.-172+21_-172+23del
NM_001164280.1:c.-2_1del NP_001157752.1:n.-2_1del
NM_001467.5:c.-2_1del NP_001458.1:n.-2_1del
NM_001164278.2:c.-2_1del NP_001157750.1:n.-2_1del
NM_001164279.2:c.-172+21_-172+23del NP_001157751.1:n.-172+21_-172+23del
NM_001164280.2:c.-2_1del NP_001157752.1:n.-2_1del
NM_001467.6:c.-2_1del NP_001458.1:n.-2_1del
NM_001164277.2:c.-2_1del MANE Select NP_001157749.1:n.-2_1del