Canonical Allele Identifier: CA2024276

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 333173
• ClinVar RCV Id: RCV000306695 ; RCV001453244
• dbSNP Id: rs768786843
• ExAC: 2:190439874 TAAC / T
• gnomAD v2: 2-190439874-TAAC-T
• gnomAD v3: 2-189575148-TAAC-T
• gnomAD v4: 2-189575148-TAAC-T
• MyVariant Identifiers: chr2:g.190439875_190439877del (hg19) ; chr2:g.189575149_189575151del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575153_189575155del , CM000664.2:g.189575153_189575155del	GRCh38
NC_000002.11:g.190439879_190439881del , CM000664.1:g.190439879_190439881del	GRCh37
NC_000002.10:g.190148124_190148126del	NCBI36
NG_009027.1:g.10661_10663del , LRG_837:g.10661_10663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.271+10_271+12del MANE Select	ENSP00000261024.3:n.271+10_271+12del
ENST00000261024.6:c.271+10_271+12del	ENSP00000261024.2:n.271+10_271+12del
ENST00000427241.5:c.271+10_271+12del	ENSP00000390005.1:n.271+10_271+12del
ENST00000479598.5:n.552+10_552+12del
NM_014585.5:c.271+10_271+12del , LRG_837t1:c.271+10_271+12del	NP_055400.1:n.271+10_271+12del
XM_005246505.1:c.151+10_151+12del	XP_005246562.1:n.151+10_151+12del
XM_005246505.2:c.151+10_151+12del	XP_005246562.1:n.151+10_151+12del
XM_017003938.2:c.151+10_151+12del	XP_016859427.1:n.151+10_151+12del
NM_014585.6:c.271+10_271+12del MANE Select	NP_055400.1:n.271+10_271+12del