Canonical Allele Identifier: CA640121535

Gene: SHOX

Linked Data

• dbSNP Id: rs2052849622
• gnomAD v2: X-602035-ACCTGTCATCCCAGCACTTTGGGAGGCTGAGGAGGGTGCATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACTTAACGAAACCCTGTCTATTAAAAATACAAAATGGGTGTGGTGGCTCACG-A
• gnomAD v3: X-641300-ACCTGTCATCCCAGCACTTTGGGAGGCTGAGGAGGGTGCATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACTTAACGAAACCCTGTCTATTAAAAATACAAAATGGGTGTGGTGGCTCACG-A
• gnomAD v4: X-641300-ACCTGTCATCCCAGCACTTTGGGAGGCTGAGGAGGGTGCATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACTTAACGAAACCCTGTCTATTAAAAATACAAAATGGGTGTGGTGGCTCACG-A
• MyVariant Identifiers: chrX:g.602036_602162del (hg19) ; chrX:g.641301_641427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.641327_641453del , CM000685.2:g.641327_641453del	GRCh38
NC_000023.10:g.602062_602188del , CM000685.1:g.602062_602188del	GRCh37
NC_000023.9:g.522062_522188del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686671.1:c.633+240_633+366del MANE Select	ENSP00000508521.1:n.633+240_633+366del
ENST00000334060.8:c.633+240_633+366del	ENSP00000335505.3:n.633+240_633+366del
ENST00000381575.6:c.633+240_633+366del	ENSP00000370987.1:n.633+240_633+366del
ENST00000381578.6:c.633+240_633+366del	ENSP00000370990.1:n.633+240_633+366del
ENST00000554971.6:c.633+240_633+366del	ENSP00000452016.1:n.633+240_633+366del