Canonical Allele Identifier: CA229597622

Gene: SLC37A4

Linked Data

• dbSNP Id: rs945917199
• gnomAD v4: 11-119026409-C-CG
• MyVariant Identifiers: chr11:g.118897119_118897120insG (hg19) ; chr11:g.119026409_119026410insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119026409_119026410insG , CM000673.2:g.119026409_119026410insG	GRCh38
NC_000011.9:g.118897119_118897120insG , CM000673.1:g.118897119_118897120insG	GRCh37
NC_000011.8:g.118402329_118402330insG	NCBI36
NG_013331.1:g.9496_9497insC , LRG_187:g.9496_9497insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1015-330_1015-329insC
ENST00000697845.1:n.1465_1466insC
ENST00000697846.1:n.1015-330_1015-329insC
ENST00000697847.1:n.1201+92_1201+93insC
ENST00000697848.1:n.1100+193_1100+194insC
ENST00000697849.1:n.2580_2581insC
ENST00000697850.1:n.1100+193_1100+194insC
ENST00000697851.1:n.2708+193_2708+194insC
ENST00000638186.1:n.1174+193_1174+194insC
ENST00000638360.1:n.1006+193_1006+194insC
ENST00000638925.1:n.1139+161_1139+162insC
ENST00000650539.1:n.1276+193_1276+194insC
ENST00000330775.9:c.870+193_870+194insC	ENSP00000476242.2:n.870+193_870+194insC
ENST00000357590.9:c.870+193_870+194insC	ENSP00000476176.2:n.870+193_870+194insC
ENST00000524428.5:n.1107-330_1107-329insC
ENST00000525039.5:n.1294+193_1294+194insC
ENST00000525102.5:n.1628+193_1628+194insC
ENST00000525372.5:n.968+96_968+97insC
ENST00000526275.5:n.1652+193_1652+194insC
ENST00000527992.5:n.1098+193_1098+194insC
ENST00000529510.5:n.559-330_559-329insC
ENST00000530407.5:n.1020+193_1020+194insC
ENST00000532085.1:n.3922_3923insC
ENST00000538950.5:c.651+193_651+194insC	ENSP00000475991.2:n.651+193_651+194insC
ENST00000545985.5:c.870+193_870+194insC	ENSP00000475241.2:n.870+193_870+194insC
NM_001164277.1:c.870+193_870+194insC , LRG_187t1:c.870+193_870+194insC	NP_001157749.1:n.870+193_870+194insC
NM_001164278.1:c.870+193_870+194insC	NP_001157750.1:n.870+193_870+194insC
NM_001164279.1:c.651+193_651+194insC	NP_001157751.1:n.651+193_651+194insC
NM_001164280.1:c.870+193_870+194insC	NP_001157752.1:n.870+193_870+194insC
NM_001467.5:c.870+193_870+194insC	NP_001458.1:n.870+193_870+194insC
NM_001164278.2:c.870+193_870+194insC	NP_001157750.1:n.870+193_870+194insC
NM_001164279.2:c.651+193_651+194insC	NP_001157751.1:n.651+193_651+194insC
NM_001164280.2:c.870+193_870+194insC	NP_001157752.1:n.870+193_870+194insC
NM_001467.6:c.870+193_870+194insC	NP_001458.1:n.870+193_870+194insC
NM_001164277.2:c.870+193_870+194insC MANE Select	NP_001157749.1:n.870+193_870+194insC