Canonical Allele Identifier: CA993131290

Gene: INSR

Linked Data

• dbSNP Id: rs1973305562
• gnomAD v3: 19-7150369-GCTCTC-G
• gnomAD v4: 19-7150369-GCTCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7150371_7150375del , CM000681.2:g.7150371_7150375del	GRCh38
NC_000019.9:g.7150382_7150386del , CM000681.1:g.7150382_7150386del	GRCh37
NC_000019.8:g.7101382_7101386del	NCBI36
NG_008852.2:g.148627_148631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2267+123_2267+127del MANE Select	ENSP00000303830.4:n.2267+123_2267+127del
ENST00000302850.9:c.2267+123_2267+127del	ENSP00000303830.4:n.2267+123_2267+127del
ENST00000341500.9:c.2231+2352_2231+2356del	ENSP00000342838.4:n.2231+2352_2231+2356del
NM_000208.2:c.2267+123_2267+127del	NP_000199.2:n.2267+123_2267+127del
NM_000208.3:c.2267+123_2267+127del	NP_000199.2:n.2267+123_2267+127del
NM_001079817.1:c.2231+2352_2231+2356del	NP_001073285.1:n.2231+2352_2231+2356del
NM_001079817.2:c.2231+2352_2231+2356del	NP_001073285.1:n.2231+2352_2231+2356del
XM_011527988.1:c.2345+123_2345+127del	XP_011526290.1:n.2345+123_2345+127del
XM_011527989.1:c.2309+2352_2309+2356del	XP_011526291.1:n.2309+2352_2309+2356del
XM_011527988.2:c.2267+123_2267+127del	XP_011526290.2:n.2267+123_2267+127del
XM_011527989.3:c.2231+2352_2231+2356del	XP_011526291.2:n.2231+2352_2231+2356del
NM_000208.4:c.2267+123_2267+127del MANE Select	NP_000199.2:n.2267+123_2267+127del
NM_001079817.3:c.2231+2352_2231+2356del	NP_001073285.1:n.2231+2352_2231+2356del