Canonical Allele Identifier: CA2662329083

Gene: SLC40A1

Linked Data

• gnomAD v4: 2-189575143-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575148_189575149del , CM000664.2:g.189575148_189575149del	GRCh38
NC_000002.11:g.190439874_190439875del , CM000664.1:g.190439874_190439875del	GRCh37
NC_000002.10:g.190148119_190148120del	NCBI36
NG_009027.1:g.10667_10668del , LRG_837:g.10667_10668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.271+16_271+17del MANE Select	ENSP00000261024.3:n.271+16_271+17del
ENST00000261024.6:c.271+16_271+17del	ENSP00000261024.2:n.271+16_271+17del
ENST00000427241.5:c.271+16_271+17del	ENSP00000390005.1:n.271+16_271+17del
ENST00000479598.5:n.552+16_552+17del
NM_014585.5:c.271+16_271+17del , LRG_837t1:c.271+16_271+17del	NP_055400.1:n.271+16_271+17del
XM_005246505.1:c.151+16_151+17del	XP_005246562.1:n.151+16_151+17del
XM_005246505.2:c.151+16_151+17del	XP_005246562.1:n.151+16_151+17del
XM_017003938.2:c.151+16_151+17del	XP_016859427.1:n.151+16_151+17del
NM_014585.6:c.271+16_271+17del MANE Select	NP_055400.1:n.271+16_271+17del